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PPKDFN
MCID: KRT058
MIFTS: 43

Keratoderma, Palmoplantar, with Deafness (PPKDFN)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Keratoderma, Palmoplantar, with Deafness

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MalaCards integrated aliases for Keratoderma, Palmoplantar, with Deafness:

Name: Keratoderma, Palmoplantar, with Deafness 57 73 13
Palmoplantar Keratoderma-Deafness Syndrome 12 43 58 29 6 15
Palmoplantar Keratoderma with Deafness 12 43 36 44 71
Palmoplantar Hyperkeratosis-Hearing Loss Syndrome 12 43 58
Palmoplantar Keratoderma-Hearing Loss Syndrome 12 43 58
Palmoplantar Hyperkeratosis-Deafness Syndrome 12 43 58
Ppk-Deafness Syndrome 12 43 58
Keratoderma Palmoplantar Deafness 12 20
Focal Palmoplantar Keratoderma with Sensorineural Deafness 20
Palmoplantar Keratoderma and Sensorineural Deafness 20
Hereditary Palmoplantar Keratoderma with Deafness 20
Diffuse Palmoplantar Keratoderma with Deafness 20
Keratoderma Palmoplantar, with Deafness 20
Keratoderma Palmoplantar, Deafness 39
Ppk with Deafness 43
Ppkdfn 73

Characteristics:

Orphanet epidemiological data:

58
palmoplantar keratoderma-deafness syndrome
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
allelic to deafness, autosomal recessive 1, , deafness, autosomal dominant 3, , vohwinkel syndrome, , keratitis-ichthyosis-deafness syndrome, , hystrix-like ichthyosis with deafness, , bart-pumphrey syndrome,


HPO:

31
keratoderma, palmoplantar, with deafness:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111505
OMIM® 57 148350
KEGG 36 H00716
SNOMED-CT 67 722203001
MESH via Orphanet 45 C536152
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C1835672
Orphanet 58 ORPHA2202
MedGen 41 C1835672
UMLS 71 C1835672
Sources

Summaries for Keratoderma, Palmoplantar, with Deafness

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GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2202DefinitionPalmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Keratoderma, Palmoplantar, with Deafness, also known as palmoplantar keratoderma-deafness syndrome, is related to keratitis-ichthyosis-deafness syndrome, autosomal dominant and nonsyndromic hearing loss and deafness, dfna3. An important gene associated with Keratoderma, Palmoplantar, with Deafness is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and palmoplantar keratoderma

Disease Ontology : 12 A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has material basis in heterozygous mutation in GJB2 on chromosome 13q12.11.

MedlinePlus Genetics : 43 Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds.The signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others developing only hearing loss.

KEGG : 36 Palmoplantar keratoderma with deafness is a Cx26 disorder characterized by sensorineural hearing loss and palmoplantar keratoderma as observed for other Cx26 syndromic deafness disorders such as Vohwinkel syndrome and Bart-Pumphrey syndrome.

UniProtKB/Swiss-Prot : 73 Keratoderma, palmoplantar, with deafness: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness.

More information from OMIM: 148350
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Related Diseases for Keratoderma, Palmoplantar, with Deafness

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Diseases related to Keratoderma, Palmoplantar, with Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 keratitis-ichthyosis-deafness syndrome, autosomal dominant 31.6 GJB6 GJB2 GJA1
2 nonsyndromic hearing loss and deafness, dfna3 30.6 GJB6 GJB2
3 palmoplantar keratosis 30.1 GJB4 GJB3 GJB2 GJA1
4 nonsyndromic hearing loss and deafness, dfnb1 30.0 GJB6 GJB3 GJB2
5 dfnb1 30.0 GJB6 GJB3 GJB2
6 ichthyosis 29.9 GJB6 GJB2 GJA1
7 keratosis 29.9 GJB3 GJB2 GJA1
8 keratitis, hereditary 29.8 GJB6 GJB2
9 sensorineural hearing loss 29.8 MT-TS1 GJB6 GJB3 GJB2
10 nonsyndromic hearing loss 29.8 GJB6 GJB3 GJB2 CRYL1
11 autosomal dominant non-syndromic sensorineural deafness type dfna 29.8 GJB6 GJB3 GJB2
12 deafness, autosomal dominant 3a 29.7 GJB6 GJB4 GJB3 GJB2
13 deafness, autosomal recessive 1a 29.3 GJB6 GJB4 GJB3 GJB2 CRYL1
14 vohwinkel syndrome 29.2 GJB6 GJB4 GJB3 GJB2 GJA1
15 skin disease 29.1 GJB6 GJB4 GJB3 GJB2 GJA1
16 autosomal recessive non-syndromic sensorineural deafness type dfnb 29.0 GJB6 GJB3 GJB2 GJA1 CRYL1
17 branchiootic syndrome 1 10.5
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
19 focal palmoplantar keratoderma 10.3
20 hereditary palmoplantar keratoderma 10.3
21 palmoplantar keratoderma, epidermolytic 10.2
22 nonsyndromic hearing loss and deafness, mitochondrial 10.2
23 ainhum 10.2 GJB4 GJB2
24 deafness, neural, with atypical atopic dermatitis 10.1
25 deafness, nonsyndromic sensorineural, mitochondrial 10.1
26 candidiasis 10.1
27 chronic mucocutaneous candidiasis 10.1
28 deafness, autosomal dominant nonsyndromic sensorineural 3 10.1
29 diffuse palmoplantar keratoderma 10.1
30 purulent labyrinthitis 10.1 GJB6 GJB2
31 labyrinthitis 10.1 GJB6 GJB2
32 viral labyrinthitis 10.1 GJB6 GJB2
33 congenital cytomegalovirus 10.1 GJB6 GJB2
34 deafness, aminoglycoside-induced 10.1 MT-TS1 GJB2
35 deafness, autosomal dominant 2b 10.1 GJB3 GJB2
36 deafness, autosomal dominant 51 10.0 MT-TS1 GJB3
37 deafness, autosomal recessive 91 10.0 GJB3 GJB2
38 deafness, autosomal dominant 2a 10.0 GJB3 GJB2
39 deafness, autosomal dominant 9 10.0 GJB3 GJB2
40 deafness, autosomal recessive 12 10.0 GJB3 GJB2
41 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.0 GJB4 GJB3
42 non-syndromic genetic deafness 10.0 GJB2 CRYL1
43 leukodystrophy, hypomyelinating, 2 9.9 GJB4 GJA1
44 branchiootorenal syndrome 9.9 GJB6 GJB2
45 drug-induced hearing loss 9.9 MT-TS1 GJB3 GJB2
46 hypotrichosis-deafness syndrome 9.9 GJB4 GJB3 GJB2
47 pendred syndrome 9.9 GJB6 GJB2
48 nevus, epidermal 9.9 GJB4 GJB3 GJB2
49 deafness, autosomal dominant 3b 9.9 GJB6 GJB3 GJB2
50 vestibular disease 9.9 GJB6 GJB3 GJB2

Graphical network of the top 20 diseases related to Keratoderma, Palmoplantar, with Deafness:



Diseases related to Keratoderma, Palmoplantar, with Deafness
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Symptoms & Phenotypes for Keratoderma, Palmoplantar, with Deafness

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Human phenotypes related to Keratoderma, Palmoplantar, with Deafness:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 hearing impairment 31 HP:0000365
4 hyperkeratosis 58 Very frequent (99-80%)
5 palmoplantar hyperkeratosis 31 HP:0000972

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin Nails Hair Skin:
palmoplantar hyperkeratosis

Head And Neck Ears:
hearing loss, high frequency, slowly progressive (onset in early childhood)

Clinical features from OMIM®:

148350 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Keratoderma, Palmoplantar, with Deafness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.26 GJA1 GJB2 GJB3 GJB6
2 no phenotypic analysis MP:0003012 8.92 GJA1 GJB2 GJB3 GJB6
Sources

Drugs & Therapeutics for Keratoderma, Palmoplantar, with Deafness

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Search Clinical Trials , NIH Clinical Center for Keratoderma, Palmoplantar, with Deafness

Cochrane evidence based reviews: palmoplantar keratoderma with deafness

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Genetic Tests for Keratoderma, Palmoplantar, with Deafness

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Genetic tests related to Keratoderma, Palmoplantar, with Deafness:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma-Deafness Syndrome 29 GJB2
Sources

Anatomical Context for Keratoderma, Palmoplantar, with Deafness

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MalaCards organs/tissues related to Keratoderma, Palmoplantar, with Deafness:

40
Skin
Sources

Publications for Keratoderma, Palmoplantar, with Deafness

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Articles related to Keratoderma, Palmoplantar, with Deafness:

(show all 24)
# Title Authors PMID Year
1
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. 57 6
12372058 2002
2
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). 57 6
10633135 2000
3
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 57 61
17993581 2008
4
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 61 6
16059934 2005
5
Hereditary palmoplantar keratoderma with deafness. 61 57
8736341 1996
6
Diffuse palmoplantar keratoderma with deafness. 61 6
6213205 1982
7
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. 6
15996214 2005
8
Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation. 6
11175301 2001
9
Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome. 6
11069477 2000
10
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. 6
10218527 1999
11
The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression. 6
9742104 1998
12
Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. 6
9450881 1998
13
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 57
9139825 1997
14
Mitochondrial mutation associated with nonsyndromic deafness. 6
8572257 1995
15
Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness. 6
7987332 1994
16
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. 6
8019558 1994
17
Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations. 57
1532426 1992
18
Palmoplantar keratoderma, deafness and atopy. 57
2956987 1987
19
Familial hereditary, progressive sensori-neural hearing loss with keratosis palmaris and plantaris. 6
127819 1975
20
Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant. 61
33443819 2021
21
Connexin channels in congenital skin disorders. 61
26775130 2016
22
Overview of skin diseases linked to connexin gene mutations. 61
23675785 2014
23
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene. 61
20583176 2010
24
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. 61
18787097 2008
Sources

Variations for Keratoderma, Palmoplantar, with Deafness

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ClinVar genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-TS1 NC_012920.1:m.7445A>G SNV Pathogenic 9563 rs199474818 MT:7445-7445 MT:7445-7445
2 GJB2 NM_004004.6(GJB2):c.176G>C (p.Gly59Ala) SNV Pathogenic 17015 rs104894404 13:20763545-20763545 13:20189406-20189406
3 GJB2 NM_004004.6(GJB2):c.218A>G (p.His73Arg) SNV Pathogenic 17037 rs121912968 13:20763503-20763503 13:20189364-20189364
4 GJB2 NM_004004.6(GJB2):c.66G>T (p.Lys22Asn) SNV Pathogenic 242831 rs879253741 13:20763655-20763655 13:20189516-20189516
5 GJB2 NM_004004.6(GJB2):c.175G>C (p.Gly59Arg) SNV Pathogenic 496215 rs104894410 13:20763546-20763546 13:20189407-20189407
6 GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) SNV Pathogenic 163514 rs727503066 13:20763342-20763342 13:20189203-20189203
7 GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) SNV Pathogenic 550195 rs371024165 13:20763627-20763627 13:20189488-20189488
8 GJB2 NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) SNV Pathogenic 17027 rs28931593 13:20763497-20763497 13:20189358-20189358
9 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
10 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
11 GJB2 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) SNV Pathogenic 188830 rs104894413 13:20763590-20763590 13:20189451-20189451
12 GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met) SNV Pathogenic 44735 rs111033299 13:20763438-20763438 13:20189299-20189299
13 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) SNV Pathogenic 44763 rs111033294 13:20763104-20763104 13:20188965-20188965
14 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443
15 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Pathogenic 44749 rs76434661 13:20763305-20763305 13:20189166-20189166
16 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
17 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155
18 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
19 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) SNV Pathogenic 17001 rs80338944 13:20763490-20763490 13:20189351-20189351
20 GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val) SNV Pathogenic 44729 rs111033293 13:20763720-20763720 13:20189581-20189581
21 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782
22 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 13:20763170-20763170 13:20189031-20189031
23 GJB2 NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) SNV Pathogenic 265481 rs774518779 13:20763215-20763215 13:20189076-20189076
24 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155
25 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr) SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481
26 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548
27 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile) SNV Likely pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473
28 GJB2 NM_004004.6(GJB2):c.188T>C (p.Val63Ala) SNV Uncertain significance 177751 rs727504309 13:20763533-20763533 13:20189394-20189394
29 GJB2 NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) SNV Uncertain significance 44765 rs111033194 13:20763051-20763051 13:20188912-20188912
30 GJB2 NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) SNV Uncertain significance 44764 rs375599392 13:20763058-20763058 13:20188919-20188919

UniProtKB/Swiss-Prot genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

73
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Arg75Trp VAR_002140 rs104894402
2 GJB2 p.Asp66His VAR_008710 rs104894403
3 GJB2 p.Gly59Ala VAR_009965 rs104894404
4 GJB2 p.Arg75Gln VAR_015936 rs28931593
5 GJB2 p.His73Arg VAR_060799 rs121912968

Sources

Expression for Keratoderma, Palmoplantar, with Deafness

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Search GEO for disease gene expression data for Keratoderma, Palmoplantar, with Deafness.
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Pathways for Keratoderma, Palmoplantar, with Deafness

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Pathways related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Vesicle-mediated transport 65
Show member pathways
 12.74 GJB6 GJB4 GJB3 GJB2 GJA1 DYNC1I2
2
G-Beta Gamma Signaling 63
Show member pathways
 12.53 GJB6 GJB4 GJB3 GJB2 GJA1
3
Development Slit-Robo signaling 23
Show member pathways
 11.95 GJB3 GJB2 GJA1
4
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 11.84 GJB6 GJB4 GJB3 GJB2 GJA1
5
Gap junction trafficking 65
Show member pathways
 11.01 GJB6 GJB4 GJB3 GJB2 GJA1
6
Transport of connexins along the secretory pathway 65
Show member pathways
 10.28 GJB2 GJA1
Sources

GO Terms for Keratoderma, Palmoplantar, with Deafness

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Cellular components related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.55 GJB6 GJB4 GJB3 GJB2 GJA1
2 gap junction GO:0005921 9.35 GJB6 GJB4 GJB3 GJB2 GJA1
3 connexin complex GO:0005922 9.02 GJB6 GJB4 GJB3 GJB2 GJA1

Biological processes related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.77 GJB6 GJB4 GJB3 GJB2 GJA1
2 cell-cell signaling GO:0007267 9.72 GJB6 GJB4 GJB3 GJB2 GJA1
3 response to lipopolysaccharide GO:0032496 9.61 GJB6 GJB2 GJA1
4 response to ischemia GO:0002931 9.52 GJB2 GJA1
5 inner ear development GO:0048839 9.51 GJB6 GJB2
6 response to retinoic acid GO:0032526 9.49 GJB2 GJA1
7 maintenance of permeability of blood-brain barrier GO:0035633 9.48 GJB6 GJA1
8 decidualization GO:0046697 9.46 GJB2 GJA1
9 gap junction assembly GO:0016264 9.43 GJB6 GJB2 GJA1
10 epididymis development GO:1905867 9.4 GJB2 GJA1
11 cell communication by electrical coupling GO:0010644 9.33 GJB6 GJB2 GJA1
12 gap junction-mediated intercellular transport GO:1990349 9.13 GJB6 GJB4 GJB2
13 cell communication GO:0007154 9.02 GJB6 GJB4 GJB3 GJB2 GJA1

Molecular functions related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.13 GJB6 GJB2 GJA1
2 gap junction channel activity GO:0005243 9.02 GJB6 GJB4 GJB3 GJB2 GJA1
Sources

Sources for Keratoderma, Palmoplantar, with Deafness

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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